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Albert David Selected Research

Polydactyly (Polydactylism)

2/2013Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.

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Albert David Research Topics

Disease

3Neoplasms (Cancer)
07/2013 - 09/2009
2Cerebellar Ataxia (Dysmetria)
06/2017 - 12/2010
2Intellectual Disability (Idiocy)
01/2016 - 03/2010
1Inborn Genetic Diseases (Disease, Hereditary)
11/2023
1Tetrasomy
11/2023
1Schmid-Fraccaro syndrome
11/2023
1Cleft palate X-linked
01/2018
1Ankyloglossia
01/2018
1Ataxia (Dyssynergia)
06/2017
1Spinocerebellar Ataxias (Spinocerebellar Ataxia)
06/2017
1Channelopathies
06/2017
1Meckel syndrome type 1
01/2017
1Spondylocarpotarsal synostosis
12/2016
1Down Syndrome Critical Region
11/2015
1Cerebrofrontofacial Syndrome
03/2015
1Scoliosis
03/2015
1Chorea (Rheumatic Chorea)
03/2015
1Coloboma (Colobomas)
03/2015
1Deafness (Deaf Mutism)
03/2015
1Dystonia (Limb Dystonia)
03/2015
1Hearing Loss (Hearing Impairment)
03/2015
1Hypertelorism
03/2015
1Myotonia
06/2014
1Paralysis (Palsy)
06/2014
1Medullary Carcinoma
03/2014
1Thyroid Neoplasms (Thyroid Cancer)
03/2014
1Pierre Robin Syndrome (Syndrome, Pierre Robin)
12/2013
1Disorders of Sex Development (Intersexuality)
12/2013
1Campomelic Dysplasia
12/2013
1Muscle Hypotonia (Hypotonia)
11/2013
1recessive Cutis laxa
11/2013
1Type IIB Autosomal Recessive Cutis Laxa
11/2013
1Fetal Growth Retardation (Intrauterine Growth Retardation)
11/2013
1Microcephaly
05/2013
1Polydactyly (Polydactylism)
02/2013
1Liver Diseases (Liver Disease)
02/2013
1Ciliopathies
08/2012
1Gonadoblastoma
02/2011
1Dysgerminoma
02/2011
1Amenorrhea
02/2011
1Noonan Syndrome (Female Pseudo-Turner Syndrome)
03/2010
1Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)
01/2010
1Chronic Pancreatitis
11/2009
1Hereditary pancreatitis
11/2009
1Hypospadias
09/2009
1Tuberous Sclerosis (Bourneville's Disease)
09/2009
1Hamartoma
09/2009
1Seminoma
09/2009
1Cryptorchidism (Undescended Testes)
09/2009
1Cone-Rod Dystrophies
02/2009
1Osteochondrodysplasias (Spondyloepiphyseal Dysplasia)
02/2009
1Pallister-Hall Syndrome
04/2005
1Greig cephalopolysyndactyly syndrome
04/2005
1Autistic Disorder (Autism)
03/2004
1X-Linked Mental Retardation (Mental Retardation, X Linked)
03/2004
1Rett Syndrome (Rett's Disorder)
12/2003
1Androgen-Insensitivity Syndrome (Testicular Feminization)
01/2002

Drug/Important Bio-Agent (IBA)

3Proteins (Proteins, Gene)FDA Link
01/2017 - 08/2012
2Transcription Factors (Transcription Factor)IBA
01/2018 - 04/2005
2Retinaldehyde (Retinal)IBA
03/2015 - 02/2013
1Genetic Markers (Genetic Marker)IBA
11/2023
1tributyl phosphate (TBP)IBA
06/2017
1polyglutamineIBA
06/2017
1Co-Repressor ProteinsIBA
01/2016
1Phosphotransferases (Kinase)IBA
11/2015
1Tyrosine (L-Tyrosine)FDA Link
11/2015
1Actins (F Actin)IBA
03/2015
1Adenylyl Cyclases (Adenylyl Cyclase)IBA
03/2015
1Voltage-Gated Sodium ChannelsIBA
06/2014
1Calcitonin (Calcitonin, Eel)FDA LinkGeneric
03/2014
1SOX9 Transcription FactorIBA
12/2013
1Oxidoreductases (Dehydrogenase)IBA
11/2013
1Proline (L-Proline)FDA Link
11/2013
1delta-1-pyrroline-5-carboxylateIBA
11/2013
1Nonsense Codon (Nonsense Mutation)IBA
07/2013
1Deubiquitinating EnzymesIBA
05/2013
1Prostaglandins DIBA
02/2011
1Chloride Channels (Chloride Channel)IBA
12/2010
1CalciumIBA
12/2010
1OligonucleotidesIBA
03/2010
1Serine (L-Serine)FDA Link
03/2010
1Alanine-tRNA LigaseIBA
01/2010
1Ala Transfer RNAIBA
01/2010
1Kazal Pancreatic Trypsin InhibitorIBA
11/2009
1TrypsinogenIBA
11/2009
1trans-sodium crocetinate (crocetin)IBA
09/2009
1tyramine-deoxysorbitolIBA
09/2009
1Growth Hormone (Somatotropin)IBA
02/2009
1NeuroliginsIBA
03/2004
1Methyl-CpG-Binding Protein 2IBA
12/2003
1Dihydrotestosterone (Androstanolone)IBA
01/2002

Therapy/Procedure

1Orthopedic Procedures
03/2015
1Sutures (Suture)
03/2015
1Osteotomy
03/2015
1Hearing Aids (Hearing Aid)
03/2015
1Castration
02/2011